Variant report

Variant	esv3334969
Chromosome Location	chr10:854614-854709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:852322..854745-chr10:858049..860254,2	K562	blood:
2	chr10:849121..851622-chr10:853279..855417,2	K562	blood:
3	chr10:851680..853848-chr10:854341..855901,2	K562	blood:
4	chr10:851217..854668-chr10:856285..859147,3	MCF-7	breast:
5	chr10:844752..846844-chr10:853886..856295,2	K562	blood:
6	chr10:849218..853180-chr10:854145..855910,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187877107	chr10:854625-854626	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571229005	chr10:854642-854643	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572884695	chr10:854652-854653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537055988	chr10:854653-854654	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144069236	chr10:854664-854665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12774722	chr10:854675-854676	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs200213809	chr10:854681-854682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146971606	chr10:854689-854690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75773535	chr10:854690-854691	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141536087	chr10:854691-854692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71376870	chr10:854692-854693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558628022	chr10:854693-854694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199929931	chr10:854696-854697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536570270	chr10:854698-854699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370894032	chr10:854708-854709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201515304	chr10:854709-854710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:844600-857400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:849400-856400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:849600-877800	Strong transcription	Fetal Intestine Small	intestine
4	chr10:850200-857200	Weak transcription	Small Intestine	intestine
5	chr10:850400-855200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:850600-856000	Strong transcription	Brain Germinal Matrix	brain
7	chr10:850600-856600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:850600-859000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:850800-856600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:850800-857800	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:850800-862800	Weak transcription	Right Atrium	heart
12	chr10:850800-864800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:850800-877800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:851000-856600	Strong transcription	Fetal Brain Female	brain
15	chr10:851000-883000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:851200-856200	Strong transcription	Gastric	stomach
17	chr10:851200-856600	Strong transcription	Esophagus	oesophagus
18	chr10:851200-856600	Strong transcription	NHLF	lung
19	chr10:851200-867000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:851200-872400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr10:851200-877800	Strong transcription	Fetal Stomach	stomach
22	chr10:851400-856600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:851400-857800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:851400-858000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:851400-859000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:851400-862200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:851400-862800	Strong transcription	Lung	lung
28	chr10:851400-867200	Strong transcription	Placenta	Placenta
29	chr10:851400-878600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:851600-863600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr10:851600-865400	Strong transcription	Pancreas	Pancrea
32	chr10:851600-867200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:851600-872800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:851600-876600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:851600-883000	Strong transcription	Fetal Intestine Large	intestine
36	chr10:851600-889800	Strong transcription	Dnd41	blood
37	chr10:851600-890800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr10:851600-895600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:851800-865600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:851800-867800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr10:851800-868000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr10:851800-877800	Strong transcription	Liver	Liver
43	chr10:851800-879000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:851800-894000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:851800-895800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr10:852000-856600	Strong transcription	Colonic Mucosa	Colon
47	chr10:852000-868000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr10:852000-872400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr10:852000-876200	Strong transcription	Ovary	ovary
50	chr10:852000-877200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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